Carole Brewer
Exeter, ENG EX12ED, United Kingdom
Last Updated: 09/26/2026
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Found 54 publications
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Journal: Science advances
Published: March 10, 2023
Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.
Journal: Journal of the National Cancer Institute
Published: November 23, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 03, 2022
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Journal: Annals of oncology : official journal of the European Society for Medical Oncology
Published: March 03, 2022
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Journal: Journal of medical genetics
Published: November 22, 2021
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Journal: The Lancet. Oncology
Published: July 02, 2021
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Journal: American journal of medical genetics. Part A
Published: March 03, 2021
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Journal: Journal of the National Cancer Institute
Published: February 16, 2021
Value of the loss of heterozygosity to BRCA1 variant classification.
Journal: NPJ breast cancer
Published: November 16, 2020
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 25, 2020
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Journal: American journal of medical genetics. Part A
Published: August 28, 2020
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Journal: Breast cancer research : BCR
Published: February 28, 2020
Last Updated: 09/26/2026